| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61456674C>T | CA340708 | TBX4 | c.184C>T (p.Gln62Ter) c.-75C>T (n.-75C>T) c.373C>T (p.Gln125Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61456674C= | CA2269031384 | TBX4 | c.184C= (p.Gln62=) c.-75C= (n.-75C=) c.373C= (p.Gln125=) | dbSNP |
| 17 | g.61456674C>A | CA400469215 | TBX4 | c.184C>A (p.Gln62Lys) c.-75C>A (n.-75C>A) c.373C>A (p.Gln125Lys) | dbSNP gnomAD v4 |